Do you know what causes MTHFR?
Honestly, this is a common question, but it’s not discussed as often as it should be.
Today I’m going to provide a useful insight into MTHFR and everything you need to know about the background of this issue.
The more you know, the easier it will be to understand MTHFR variants and their impact on your life.
How do I get MTHFR mutation?
We read about MTHFR all the time, but most of us have a hard time to understand what it represents.
I’ll start with that first, obviously.
MTHFR stands for methylenetetrahydrofolate reductase.
It’s a gene that instructs the body to produce the MTHFR enzyme.
The enzyme is responsible for the processing of folate, which you need for overall health and wellbeing, including DNA production.
Just like with any other gene, the DNA code of the MTHFR gene may vary.
The part of the DNA sequence that varies is called a variant, or as many people refer to it as a mutation.
There are two types of MTHFR variants.
They are C677T and A1298C, both of which are common.
You get MTHFR mutation because you inherit it.
The variant doesn’t develop on its own or out of the blue.
Each person has two copies of the MTHFR gene; you can inherit one copy of an MTHFR variant or two copies.
In other words, you can get an MTHFR mutation from one parent or both.
A lot more research on this subject is necessary to uncover why these variants happen in the first place.
What is the MTHFR factor?
Since everyone has two MTHFR genes, mutations can occur in one or both of them.
You are at risk of inheriting the same variant if your parents or close relatives have them.
Having an MTHFR mutation puts you at a higher risk of a number of health problems.
Some of them are familiar to you, but other conditions that you could develop due to MTHFR are not.
Physical and psychological conditions linked with carrying an MTHFR variant include:
- Acute leukemia
- Bipolar disorder
- Cardiovascular and thromboembolic diseases (blood clots, heart attack, stroke)
- Chronic fatigue and pain
- Colon cancer
- Nerve pain
- Pregnancy with neural tube defects
- Recurrent miscarriages
Sometimes MTHFR mutation isn’t the only variant you have.
It can combine with other gene mutations and increase the risk of serious health problems…
For example, studies show that Factor V Leiden mutation and MTHFR variants are a combined risk for myocardial infarction.
Factor V Leiden is an inherited disorder of blood clotting caused by mutation of the F5 gene.
What is MTHFR heterozygous?
Heterozygous and homozygous are frequently mentioned terms in relation to gene mutations, but honestly, they can be confusing.
To understand what causes MTHFR, it’s crucial to clarify the meaning of these terms.
As I’ve mentioned above, you can have a mutation on one MTHFR gene or both of them.
When you inherit one mutation (from one parent only), then you are heterozygous.
In other words, people with one MTHFR variant are heterozygous.
On the flip side, if you carry two MTHFR variants, then you are homozygous.
Generally speaking, homozygous people are at a higher risk of developing health problems associated with MTHFR mutation.
What is MTHFR polymorphism?
Before we can even discuss MTHFR polymorphism, I’ll define this term first.
It seems so confusing, doesn’t it?
But, actually, it’s incredibly simple…
Genetic polymorphism is used to describe multiple forms of a single gene.
It is the inheritance trait controlled by a single genetic locus with two alleles.
Locus is a site on a chromosome, while allele is any one of two or more genes that may occur.
There are two main and most vastly explored examples of MTHFR polymorphism.
I mentioned them earlier, C677T and A1298C, but I’m going to shed more light on them below.
The most common variant or the most prevalent type of MTHFR polymorphism is C677T.
In this case, 677 indicates the position in the MTHFR gene, C stands for the expected DNA base, while T is the gene variant itself.
When it comes to A1298C, the number 1298 is the position in the MTHFR gene, A is the expected DNA base, and C is the gene variant.
In the United States, about 25% of people who are Hispanic and 10% to 15% of Caucasians have two copies of C677T.
Women with two copies of this gene are at a higher risk of having a child with a neural tube defect.
Men and women with two copies of C677T and elevated homocysteine levels are more likely to develop venous thromboembolism (blood clots).
What’s more, high homocysteine levels can also occur due to MTHFR gene variants.
Variant A1298C is less explored than C677T.
Most studies about this variant are based on specific geographical location or ethnic group.
One study found that out of 120 blood donors, 56 of them (or 46.7%) were heterozygous for the A1298C variant, while 11 subjects (14.2%) were homozygous.
Interestingly, a person can inherit both C677T and A1298C variants at the same time, one copy of each.
So What Causes MTHFR Is Simple To Answer But More Research Is Needed
In this post, I aimed to clarify the causes of MTHFR, and although the inheritance of MTHFR variants is the answer, a lot more research on this subject is necessary.
At this point, it’s unknown why these gene variants develop.
When discussing what causes MTHFR, we also need to understand that it’s possible to have a healthy, happy life by adopting a proactive approach to support your lifestyle and decrease the risk of conditions associated with it.